Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 1

Results: 13

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 9, doi. 10.1007/s00439-015-1605-y
By:
- Lee, Winston;
- Xie, Yajing;
- Zernant, Jana;
- Yuan, Bo;
- Bearelly, Srilaxmi;
- Tsang, Stephen;
- Lupski, James;
- Allikmets, Rando
Publication type:
Article
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 41, doi. 10.1007/s00439-015-1606-x
By:
- Conte, Federica;
- Oti, Martin;
- Dixon, Jill;
- Carels, Carine;
- Rubini, Michele;
- Zhou, Huiqing
Publication type:
Article
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 21, doi. 10.1007/s00439-015-1608-8
By:
- Shamseldin, Hanan;
- Smith, Laura;
- Kentab, Amal;
- Alkhalidi, Hisham;
- Summers, Brady;
- Alsedairy, Haifa;
- Xiong, Yong;
- Gupta, Vandana;
- Alkuraya, Fowzan
Publication type:
Article
Pathway-based variant enrichment analysis on the example of dilated cardiomyopathy.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 31, doi. 10.1007/s00439-015-1609-7
By:
- Backes, Christina;
- Meder, Benjamin;
- Lai, Alan;
- Stoll, Monika;
- Rühle, Frank;
- Katus, Hugo;
- Keller, Andreas
Publication type:
Article
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 69, doi. 10.1007/s00439-015-1610-1
By:
- Kosfeld, Anne;
- Kreuzer, Martin;
- Daniel, Christoph;
- Brand, Frank;
- Schäfer, Anne-Kathrin;
- Chadt, Alexandra;
- Weiss, Anna-Carina;
- Riehmer, Vera;
- Jeanpierre, Cécile;
- Klintschar, Michael;
- Bräsen, Jan;
- Amann, Kerstin;
- Pape, Lars;
- Kispert, Andreas;
- Al-Hasani, Hadi;
- Haffner, Dieter;
- Weber, Ruthild
Publication type:
Article
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 61, doi. 10.1007/s00439-015-1611-0
By:
- Fujita, Atsushi;
- Ando, Katsutoshi;
- Kobayashi, Etsuko;
- Mitani, Keiko;
- Okudera, Koji;
- Nakashima, Mitsuko;
- Miyatake, Satoko;
- Tsurusaki, Yoshinori;
- Saitsu, Hirotomo;
- Seyama, Kuniaki;
- Miyake, Noriko;
- Matsumoto, Naomichi
Publication type:
Article
Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 109, doi. 10.1007/s00439-015-1612-z
By:
- Heaton, Timothy;
- Chico, Victoria
Publication type:
Article
Mayana Katz, Ketih Okamoto: Stem cells in modeling human genetic diseases.
Published in:
2016
By:
- Schnell, Christian
Publication type:
Book Review
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 121, doi. 10.1007/s00439-015-1615-9
By:
- Santorsola, Mariangela;
- Calabrese, Claudia;
- Girolimetti, Giulia;
- Diroma, Maria;
- Gasparre, Giuseppe;
- Attimonelli, Marcella
Publication type:
Article
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 137, doi. 10.1007/s00439-015-1616-8
By:
- Lei, Jieping;
- Rudolph, Anja;
- Moysich, Kirsten;
- Behrens, Sabine;
- Goode, Ellen;
- Bolla, Manjeet;
- Dennis, Joe;
- Dunning, Alison;
- Easton, Douglas;
- Wang, Qin;
- Benitez, Javier;
- Hopper, John;
- Southey, Melissa;
- Schmidt, Marjanka;
- Broeks, Annegien;
- Fasching, Peter;
- Haeberle, Lothar;
- Peto, Julian;
- dos-Santos-Silva, Isabel;
- Sawyer, Elinor
Publication type:
Article
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 89, doi. 10.1007/s00439-015-1617-7
By:
- Arai-Ichinoi, Natsuko;
- Uematsu, Mitsugu;
- Sato, Ryo;
- Suzuki, Tasuku;
- Kudo, Hiroki;
- Kikuchi, Atsuo;
- Hino-Fukuyo, Naomi;
- Matsumoto, Mitsuyo;
- Igarashi, Kazuhiko;
- Haginoya, Kazuhiro;
- Kure, Shigeo
Publication type:
Article
EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 99, doi. 10.1007/s00439-015-1618-6
By:
- Peng, Qianqian;
- Li, Jinxi;
- Tan, Jingze;
- Yang, Yajun;
- Zhang, Manfei;
- Wu, Sijie;
- Liu, Yu;
- Zhang, Juan;
- Qin, Pengfei;
- Guan, Yaqun;
- Jiao, Yi;
- Zhang, Zhaoxia;
- Sabeti, Pardis;
- Tang, Kun;
- Xu, Shuhua;
- Jin, Li;
- Wang, Sijia
Publication type:
Article
Europeans have a higher proportion of high-frequency deleterious variants than Africans.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 1, doi. 10.1007/s00439-015-1604-z
By:
- Subramanian, Sankar
Publication type:
Article